Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Thick lower lip vermilion	HP_0000179	[Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).]
Thick vermilion border	HP_0012471	[Increased width of the skin of vermilion border region of upper lip.]
Cleft palate	HP_0000175	[Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).]
Malignant Pancreatic Neoplasm	EFO_1000359	[A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003, A malignant neoplasm involving the pancreas.]
Microglossia	HP_0000171	[Decreased length and width of the tongue.]
GM1 gangliosidosis	MONDO_0018149	[A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.]
gangliosidosis	MONDO_0017719	[A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.]
pyruvate carboxylase deficiency, benign type	MONDO_0018143	[Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.]
pyruvate carboxylase deficiency disease	EFO_1001142	[An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9), Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.]
pyruvate carboxylase deficiency, severe neonatal type	MONDO_0018142	[Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.]
congenital myasthenic syndromes with glycosylation defect	MONDO_0018144
congenital myasthenic syndrome	MONDO_0018940	[Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.]
Malignant Paraganglioma	EFO_1000360	[A paraganglioma that metastasizes to regional or distant anatomic sites. Extraadrenal paragangliomas have a higher tendency to metastasize, as compared to pheochromocytomas. Common sites of metastasis include the lymph nodes, lungs, bones, and liver.]
Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation	EFO_1000361	[A malignant peripheral nerve sheath tumor characterized by the presence of mesenchymal differentiation. Representative example is the malignant Triton tumor which contains a rhabdomyosarcomatous component.]
malignant peripheral nerve sheath tumor	EFO_0000760	[Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites., An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1)., Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.]
pyruvate carboxylase deficiency, infantile form	MONDO_0018141	[Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.]
Medullomyoblastoma with Myogenic Differentiation	EFO_1000368	[A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.]
medulloblastoma	EFO_0002939	[A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.]
Melanocytoma of the Eyeball	EFO_1000369	[A benign melanocytic proliferation within or adjacent to the optic disk. It presents as a pigmented, intraocular tumor.]
Mediastinal Malignant Germ Cell Tumor	EFO_1000366	[An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.]